JP2019526257A5 - - Google Patents
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- JP2019526257A5 JP2019526257A5 JP2019511456A JP2019511456A JP2019526257A5 JP 2019526257 A5 JP2019526257 A5 JP 2019526257A5 JP 2019511456 A JP2019511456 A JP 2019511456A JP 2019511456 A JP2019511456 A JP 2019511456A JP 2019526257 A5 JP2019526257 A5 JP 2019526257A5
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- genomic dna
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- 239000000523 sample Substances 0.000 claims description 232
- 229920003013 deoxyribonucleic acid Polymers 0.000 claims description 229
- 229920001850 Nucleic acid sequence Polymers 0.000 claims description 85
- 239000002773 nucleotide Substances 0.000 claims description 78
- 125000003729 nucleotide group Chemical group 0.000 claims description 78
- 230000003321 amplification Effects 0.000 claims description 31
- 238000003199 nucleic acid amplification method Methods 0.000 claims description 31
- 229920000023 polynucleotide Polymers 0.000 claims description 24
- 239000002157 polynucleotide Substances 0.000 claims description 24
- 238000004458 analytical method Methods 0.000 claims description 20
- 230000002068 genetic Effects 0.000 claims description 16
- 229920002083 cellular DNA Polymers 0.000 claims description 12
- 201000010099 disease Diseases 0.000 claims description 12
- 229920000272 Oligonucleotide Polymers 0.000 claims description 10
- 150000007523 nucleic acids Chemical group 0.000 claims description 8
- 238000001712 DNA sequencing Methods 0.000 claims description 6
- 230000002759 chromosomal Effects 0.000 claims description 6
- 238000000746 purification Methods 0.000 claims description 6
- 201000011510 cancer Diseases 0.000 claims description 5
- 210000000349 Chromosomes Anatomy 0.000 claims description 4
- 206010028980 Neoplasm Diseases 0.000 claims description 4
- 238000001574 biopsy Methods 0.000 claims description 4
- 201000002406 genetic disease Diseases 0.000 claims description 4
- 238000010606 normalization Methods 0.000 claims description 4
- 230000004077 genetic alteration Effects 0.000 claims description 3
- 231100000118 genetic alteration Toxicity 0.000 claims description 3
- 101700007241 APOC4 Proteins 0.000 claims description 2
- 102100000648 ATM Human genes 0.000 claims description 2
- 108060006202 ATM Proteins 0.000 claims description 2
- 210000004381 Amniotic Fluid Anatomy 0.000 claims description 2
- 102000036638 BRCA1 Human genes 0.000 claims description 2
- 108010042977 BRCA1 Protein Proteins 0.000 claims description 2
- 102000002280 BRCA2 Protein Human genes 0.000 claims description 2
- 108010000750 BRCA2 Protein Proteins 0.000 claims description 2
- 101710030368 BRIP1 Proteins 0.000 claims description 2
- 102100011166 BRIP1 Human genes 0.000 claims description 2
- 210000004369 Blood Anatomy 0.000 claims description 2
- 102100019698 CHEK2 Human genes 0.000 claims description 2
- 108060006647 CHEK2 Proteins 0.000 claims description 2
- 210000001175 Cerebrospinal Fluid Anatomy 0.000 claims description 2
- 210000003917 Chromosomes, Human Anatomy 0.000 claims description 2
- 239000003298 DNA probe Substances 0.000 claims description 2
- 102000008422 EC 2.7.1.78 Human genes 0.000 claims description 2
- 108010021757 EC 2.7.1.78 Proteins 0.000 claims description 2
- 108090000790 Enzymes Proteins 0.000 claims description 2
- 102000004190 Enzymes Human genes 0.000 claims description 2
- 210000001508 Eye Anatomy 0.000 claims description 2
- 101710038729 F2R Proteins 0.000 claims description 2
- 102000009095 Fanconi Anemia Complementation Group A Protein Human genes 0.000 claims description 2
- 108010087740 Fanconi Anemia Complementation Group A Protein Proteins 0.000 claims description 2
- 102000016627 Fanconi Anemia Complementation Group N Protein Human genes 0.000 claims description 2
- 108010067741 Fanconi Anemia Complementation Group N Protein Proteins 0.000 claims description 2
- 201000000106 Fanconi anemia complementation group A Diseases 0.000 claims description 2
- 102100016432 HDAC2 Human genes 0.000 claims description 2
- 101700061787 HDAC2 Proteins 0.000 claims description 2
- 210000002751 Lymph Anatomy 0.000 claims description 2
- 101710005594 MRPL36 Proteins 0.000 claims description 2
- 210000003097 Mucus Anatomy 0.000 claims description 2
- 101700036247 PARP1 Proteins 0.000 claims description 2
- 102100014579 PARP1 Human genes 0.000 claims description 2
- 101700053624 PARP2 Proteins 0.000 claims description 2
- 101700027237 PROA Proteins 0.000 claims description 2
- 210000002381 Plasma Anatomy 0.000 claims description 2
- 229920000776 Poly(Adenosine diphosphate-ribose) polymerase Polymers 0.000 claims description 2
- 101710043943 RALGDS Proteins 0.000 claims description 2
- 210000003296 Saliva Anatomy 0.000 claims description 2
- 210000000582 Semen Anatomy 0.000 claims description 2
- 210000002966 Serum Anatomy 0.000 claims description 2
- 210000004243 Sweat Anatomy 0.000 claims description 2
- 210000002700 Urine Anatomy 0.000 claims description 2
- 101700004528 arp Proteins 0.000 claims description 2
- 239000012472 biological sample Substances 0.000 claims description 2
- 239000008280 blood Substances 0.000 claims description 2
- 238000007385 chemical modification Methods 0.000 claims description 2
- 230000000875 corresponding Effects 0.000 claims description 2
- 230000003247 decreasing Effects 0.000 claims description 2
- 238000001514 detection method Methods 0.000 claims description 2
- 230000001079 digestive Effects 0.000 claims description 2
- 239000012530 fluid Substances 0.000 claims description 2
- 239000003112 inhibitor Substances 0.000 claims description 2
- 230000002401 inhibitory effect Effects 0.000 claims description 2
- 238000003780 insertion Methods 0.000 claims description 2
- 101710030587 ligN Proteins 0.000 claims description 2
- 101700077585 ligd Proteins 0.000 claims description 2
- 210000001519 tissues Anatomy 0.000 claims description 2
- 239000000203 mixture Substances 0.000 claims 22
- 230000004075 alteration Effects 0.000 claims 1
- 239000002131 composite material Substances 0.000 claims 1
- 238000000151 deposition Methods 0.000 claims 1
- 238000002955 isolation Methods 0.000 claims 1
- 206010061205 Hereditary disease Diseases 0.000 description 1
- 238000003745 diagnosis Methods 0.000 description 1
- 238000004393 prognosis Methods 0.000 description 1
Priority Applications (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
JP2021180899A JP7304393B2 (ja) | 2016-08-25 | 2021-11-05 | Dna試料中のゲノムコピー変化の検出方法 |
JP2023044421A JP2023078336A (ja) | 2016-08-25 | 2023-03-20 | Dna試料中のゲノムコピー変化の検出方法 |
JP2024094503A JP2024107320A (ja) | 2016-08-25 | 2024-06-11 | Dna試料中のゲノムコピー変化の検出方法 |
Applications Claiming Priority (5)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201662379593P | 2016-08-25 | 2016-08-25 | |
US62/379,593 | 2016-08-25 | ||
US201762481538P | 2017-04-04 | 2017-04-04 | |
US62/481,538 | 2017-04-04 | ||
PCT/US2017/048434 WO2018039463A1 (en) | 2016-08-25 | 2017-08-24 | Methods for the detection of genomic copy changes in dna samples |
Related Child Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
JP2021180899A Division JP7304393B2 (ja) | 2016-08-25 | 2021-11-05 | Dna試料中のゲノムコピー変化の検出方法 |
Publications (3)
Publication Number | Publication Date |
---|---|
JP2019526257A JP2019526257A (ja) | 2019-09-19 |
JP2019526257A5 true JP2019526257A5 (zh) | 2020-08-20 |
JP7217224B2 JP7217224B2 (ja) | 2023-02-02 |
Family
ID=61245331
Family Applications (4)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
JP2019511456A Active JP7217224B2 (ja) | 2016-08-25 | 2017-08-24 | Dna試料中のゲノムコピー変化の検出方法 |
JP2021180899A Active JP7304393B2 (ja) | 2016-08-25 | 2021-11-05 | Dna試料中のゲノムコピー変化の検出方法 |
JP2023044421A Pending JP2023078336A (ja) | 2016-08-25 | 2023-03-20 | Dna試料中のゲノムコピー変化の検出方法 |
JP2024094503A Pending JP2024107320A (ja) | 2016-08-25 | 2024-06-11 | Dna試料中のゲノムコピー変化の検出方法 |
Family Applications After (3)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
JP2021180899A Active JP7304393B2 (ja) | 2016-08-25 | 2021-11-05 | Dna試料中のゲノムコピー変化の検出方法 |
JP2023044421A Pending JP2023078336A (ja) | 2016-08-25 | 2023-03-20 | Dna試料中のゲノムコピー変化の検出方法 |
JP2024094503A Pending JP2024107320A (ja) | 2016-08-25 | 2024-06-11 | Dna試料中のゲノムコピー変化の検出方法 |
Country Status (13)
Country | Link |
---|---|
US (2) | US11319594B2 (zh) |
EP (1) | EP3504347A4 (zh) |
JP (4) | JP7217224B2 (zh) |
KR (2) | KR20230035431A (zh) |
CN (2) | CN117286217A (zh) |
AU (2) | AU2017315769B2 (zh) |
BR (1) | BR112019003704A2 (zh) |
CA (1) | CA3034649A1 (zh) |
IL (2) | IL312894A (zh) |
MX (2) | MX2019002093A (zh) |
RU (1) | RU2019108294A (zh) |
SG (1) | SG11201901371XA (zh) |
WO (1) | WO2018039463A1 (zh) |
Families Citing this family (19)
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RU2019108294A (ru) * | 2016-08-25 | 2020-09-25 | Резолюшн Байосайенс, Инк. | Способы обнаружения изменений количества геномных копий в образцах днк |
US11767562B2 (en) | 2018-03-08 | 2023-09-26 | St. John's University | Circulating serum cell-free DNA biomarkers and methods |
CA3094717A1 (en) | 2018-04-02 | 2019-10-10 | Grail, Inc. | Methylation markers and targeted methylation probe panels |
CN113286881A (zh) | 2018-09-27 | 2021-08-20 | 格里尔公司 | 甲基化标记和标靶甲基化探针板 |
CN111118610A (zh) * | 2018-10-31 | 2020-05-08 | 深圳华大基因股份有限公司 | 用于基因突变高深度测序的基因芯片及其制备方法和应用 |
CN112930407A (zh) * | 2018-11-02 | 2021-06-08 | 加利福尼亚大学董事会 | 使用非人类核酸诊断和治疗癌症的方法 |
JP2022544626A (ja) * | 2019-08-19 | 2022-10-19 | グリーン クロス ゲノム コーポレーション | 核酸断片間距離情報を用いた染色体異常検出方法 |
KR102452413B1 (ko) * | 2019-08-19 | 2022-10-11 | 주식회사 지씨지놈 | 핵산 단편간 거리 정보를 이용한 염색체 이상 검출 방법 |
KR102184277B1 (ko) * | 2020-01-16 | 2020-11-30 | 성균관대학교산학협력단 | 초음파 진단 및 dna 검사 일체형 ai 자가 건강 관리 장치 및 이를 이용한 원격 의료 진단 방법 |
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US11211144B2 (en) | 2020-02-18 | 2021-12-28 | Tempus Labs, Inc. | Methods and systems for refining copy number variation in a liquid biopsy assay |
US11475981B2 (en) | 2020-02-18 | 2022-10-18 | Tempus Labs, Inc. | Methods and systems for dynamic variant thresholding in a liquid biopsy assay |
CN113496760B (zh) * | 2020-04-01 | 2024-01-12 | 深圳华大基因科技服务有限公司 | 基于第三代测序的多倍体基因组组装方法和装置 |
CN113113085B (zh) * | 2021-03-15 | 2022-08-19 | 杭州杰毅生物技术有限公司 | 基于智能宏基因组测序数据肿瘤检测的分析系统及方法 |
GB202108237D0 (en) * | 2021-06-09 | 2021-07-21 | Univ London | Cancer methods |
CN114649094B (zh) * | 2022-03-30 | 2022-11-15 | 广东省人民医院 | 一种基于核磁共振的乳腺癌多参数临床决策辅助装置 |
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